R38C (p.Arg38Cys) variant of DNMT3A (Q9Y6K1)
R38C (p.Arg38Cys) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- rs779208522
- ClinGen CA1556549
- cosmic curated COSV99065
- ClinVar RCV003584095
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.49
- MetaLR 0.78
- MetaSVM 0.74
- CADD 29.70
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)